Canonical Allele Identifier: CA16608642
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 379145
dbSNP Id: rs1057520507
gnomAD v4: 17-7224972-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224972C>T , CM000679.2:g.7224972C>T GRCh38
NC_000017.10:g.7128291C>T , CM000679.1:g.7128291C>T GRCh37
NC_000017.9:g.7069015C>T NCBI36
NG_007975.1:g.10139C>T
NG_008391.2:g.79G>A
NG_033038.1:g.14573G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1843C>T MANE Select ENSP00000349297.5:p.Arg615Ter
ENST00000322910.9:c.*1798C>T ENSP00000325395.5:n.*1798C>T
ENST00000350303.9:c.1777C>T ENSP00000344152.5:p.Arg593Ter
ENST00000356839.9:c.1843C>T ENSP00000349297.5:p.Arg615Ter
ENST00000542255.6:c.722C>T
ENST00000543245.6:c.1912C>T ENSP00000438689.2:p.Arg638Ter
ENST00000578033.1:n.268C>T
ENST00000578319.5:n.424C>T
ENST00000578711.1:n.1468C>T
ENST00000578809.5:n.415C>T
ENST00000579425.5:n.959C>T
ENST00000579546.1:c.578C>T
ENST00000583848.5:c.209C>T ENSP00000466487.1:n.209C>T
ENST00000583850.5:n.614C>T
ENST00000583858.5:c.774C>T
NM_000018.3:c.1843C>T NP_000009.1:p.Arg615Ter
NM_001033859.2:c.1777C>T NP_001029031.1:p.Arg593Ter
NM_001270447.1:c.1912C>T NP_001257376.1:p.Arg638Ter
NM_001270448.1:c.1615C>T NP_001257377.1:p.Arg539Ter
XM_006721516.2:c.1864C>T XP_006721579.2:p.Arg622Ter
XM_011523829.1:c.1762C>T XP_011522131.1:p.Arg588Ter
XM_011523830.1:c.1741C>T XP_011522132.1:p.Arg581Ter
XR_934021.1:n.1946C>T
XR_934022.1:n.1852C>T
XR_934023.1:n.1873C>T
XM_006721516.3:c.1864C>T XP_006721579.2:p.Arg622Ter
XM_011523829.2:c.1762C>T XP_011522131.1:p.Arg588Ter
XM_011523830.2:c.1741C>T XP_011522132.1:p.Arg581Ter
XM_024450741.1:c.1831C>T XP_024306509.1:p.Arg611Ter
XR_934021.2:n.1898C>T
XR_934022.2:n.1804C>T
XR_934023.2:n.1825C>T
NM_000018.4:c.1843C>T MANE Select NP_000009.1:p.Arg615Ter
NM_001033859.3:c.1777C>T NP_001029031.1:p.Arg593Ter
NM_001270447.2:c.1912C>T NP_001257376.1:p.Arg638Ter
NM_001270448.2:c.1615C>T NP_001257377.1:p.Arg539Ter